nsv4578343
- Organism: Homo sapiens
- Study:nstd182 (Al-Mubarak et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:124,460
- Description:22q13.33
- Publication(s):Al-Mubarak et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1340 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 1338 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578343 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 50,634,951 | 50,759,410 |
| nsv4578343 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | 1 | 95,522 |
| nsv4578343 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 51,073,379 | 51,197,838 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity |
|---|---|---|---|---|---|---|
| nssv16091769 | copy number loss | ADHDF5 | SNP array | Genotyping | 1 | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091769 | Remapped | Pass | NW_015148969.1:g.( ?_1)_(95522_?)del | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | 1 | 95,522 |
| nssv16091769 | Remapped | Perfect | NC_000022.11:g.(?_ 50634951)_(5075941 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,634,951 | 50,759,410 |
| nssv16091769 | Submitted genomic | NC_000022.10:g.(?_ 51073379)_(5119783 8_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 51,073,379 | 51,197,838 |